Incidental Mutation 'R6114:Mfn1'
ID 484997
Institutional Source Beutler Lab
Gene Symbol Mfn1
Ensembl Gene ENSMUSG00000027668
Gene Name mitofusin 1
Synonyms D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32583614-32633388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32617985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 106 (A106D)
Ref Sequence ENSEMBL: ENSMUSP00000120960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000151320]
AlphaFold Q811U4
Predicted Effect probably benign
Transcript: ENSMUST00000091257
AA Change: A458D

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: A458D

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 1.7e-6 PFAM
Pfam:Dynamin_N 78 238 3.9e-24 PFAM
low complexity region 315 326 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
Pfam:Fzo_mitofusin 575 735 1.2e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118286
AA Change: A458D

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: A458D

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 1.2e-6 PFAM
Pfam:Dynamin_N 78 238 5e-24 PFAM
low complexity region 315 326 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
Pfam:Fzo_mitofusin 567 737 6.3e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140328
Predicted Effect probably damaging
Transcript: ENSMUST00000151320
AA Change: A106D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: A106D

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Fzo_mitofusin 215 319 1.2e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194384
Meta Mutation Damage Score 0.2834 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Mfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Mfn1 APN 3 32,596,985 (GRCm39) missense probably damaging 1.00
IGL01687:Mfn1 APN 3 32,617,515 (GRCm39) splice site probably benign
IGL02743:Mfn1 APN 3 32,628,439 (GRCm39) missense probably benign 0.10
PIT4520001:Mfn1 UTSW 3 32,615,695 (GRCm39) missense probably benign
R0039:Mfn1 UTSW 3 32,592,416 (GRCm39) splice site probably benign
R0571:Mfn1 UTSW 3 32,615,621 (GRCm39) missense probably damaging 1.00
R0920:Mfn1 UTSW 3 32,588,385 (GRCm39) critical splice acceptor site probably null
R1661:Mfn1 UTSW 3 32,588,471 (GRCm39) missense probably benign 0.00
R1665:Mfn1 UTSW 3 32,588,471 (GRCm39) missense probably benign 0.00
R2153:Mfn1 UTSW 3 32,596,975 (GRCm39) missense probably damaging 1.00
R2156:Mfn1 UTSW 3 32,588,400 (GRCm39) missense possibly damaging 0.60
R2260:Mfn1 UTSW 3 32,617,575 (GRCm39) nonsense probably null
R2420:Mfn1 UTSW 3 32,623,664 (GRCm39) missense probably benign 0.21
R3864:Mfn1 UTSW 3 32,617,241 (GRCm39) missense possibly damaging 0.89
R4079:Mfn1 UTSW 3 32,596,998 (GRCm39) missense probably damaging 1.00
R4162:Mfn1 UTSW 3 32,617,147 (GRCm39) splice site probably benign
R4897:Mfn1 UTSW 3 32,600,711 (GRCm39) intron probably benign
R5115:Mfn1 UTSW 3 32,618,456 (GRCm39) critical splice donor site probably null
R5276:Mfn1 UTSW 3 32,618,354 (GRCm39) missense probably benign 0.39
R5590:Mfn1 UTSW 3 32,617,996 (GRCm39) missense probably benign 0.00
R5629:Mfn1 UTSW 3 32,615,659 (GRCm39) missense possibly damaging 0.83
R6110:Mfn1 UTSW 3 32,617,173 (GRCm39) missense probably benign 0.01
R6560:Mfn1 UTSW 3 32,623,665 (GRCm39) missense probably damaging 0.96
R6891:Mfn1 UTSW 3 32,631,252 (GRCm39) missense possibly damaging 0.49
R7053:Mfn1 UTSW 3 32,586,114 (GRCm39) missense probably benign 0.00
R7071:Mfn1 UTSW 3 32,622,544 (GRCm39) missense probably benign 0.00
R7182:Mfn1 UTSW 3 32,618,369 (GRCm39) missense probably damaging 1.00
R8190:Mfn1 UTSW 3 32,622,538 (GRCm39) missense possibly damaging 0.88
R8998:Mfn1 UTSW 3 32,623,683 (GRCm39) missense possibly damaging 0.79
R8999:Mfn1 UTSW 3 32,623,683 (GRCm39) missense possibly damaging 0.79
R9255:Mfn1 UTSW 3 32,598,287 (GRCm39) missense possibly damaging 0.91
R9619:Mfn1 UTSW 3 32,628,478 (GRCm39) missense possibly damaging 0.50
Z1177:Mfn1 UTSW 3 32,618,440 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCACACTGTCTGACATGTG -3'
(R):5'- TTGCCTTCCAAACAATGCAC -3'

Sequencing Primer
(F):5'- GCACACTGTCTGACATGTGACATTG -3'
(R):5'- CAATGCACCCAAATTAAAATAACCC -3'
Posted On 2017-08-16